Varaico: Literature-Extracted Genetic Variants

SHROOM3

165 papers

RefSeq Summary

This gene encodes a PDZ-domain-containing protein that belongs to a family of Shroom-related proteins. This protein may be involved in regulating cell shape in certain tissues. A similar protein in mi...

Pfam Domains

PDZaa 28–107UCSCPDZ domain

ASD1aa 884–1066UCSCApx/Shroom domain ASD1

ASD2aa 1670–1956UCSCApx/Shroom domain ASD2

Gene Aliases

HGNC Name

shroom family member 3

HGNC Alias Symbols

ShrmL; SHRM; KIAA1481; APXL3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020859.4

p.R942Q

c.2825G>A

Surrounding Variants

1 paper

NM_020859.4

p.R942*

c.2824C>T

1 paper

NM_020859.4

p.R944P

c.2831G>C

2 papers

NM_020859.4

p.D945V

c.2834A>T

1 paper

NM_020859.4

p.L948fs

c.2842_2843fs

1 paper

NM_020859.4

p.L948insFs

c.2843_2844insG

1 paper

NM_020859.4

p.S933P

c.2797T>C

1 paper

NM_020859.4

p.A953A

c.2859G>A

1 paper

NM_020859.4

p.P961S

c.2881C>T

1 paper

NM_020859.4

p.S962F

c.2885C>T

1 paper

NM_020859.4

p.S963L

c.2888C>T

2 papers

NM_020859.4

p.R969W

c.2905C>T

1 paper

NM_020859.4

p.S974L

c.2921C>T